Echaniz-Laguna Andoni, Degos Bertrand, Mohr Michel, Kessler Romain, Urban-Kraemer Emilie, Tranchant Christine
Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP426, 67091 Strasbourg, France.
Muscle Nerve. 2006 Mar;33(3):356-62. doi: 10.1002/mus.20475.
We report three patients with a syndrome that fulfilled clinical and laboratory criteria for definite chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) who failed immunosuppressive treatment and eventually developed progressive amyotrophic lateral sclerosis (ALS). Mean disease duration was 23 months (13-38) before death. Two patients had a family history of ALS without mutations of the SOD1 gene. Postmortem examination in one patient showed an endoneurial infiltration of mononuclear cells in lumbar roots and distal and proximal peripheral nerves, mainly around myelinated fibers, with demyelination and axonal loss, consistent with CIDP. The spinal cord revealed severe neuronal loss in the anterior horn, axonal loss in the corticospinal tract, and large numbers of phagocytes in the anterior and lateral tracts, indicative of ALS. Whether demyelinating polyneuropathy was coincident with ALS or was a cause or consequence of motor neuron degeneration in these patients remains to be elucidated. This unusual combination may provide an important clue in elucidating the pathogenesis of ALS in some patients.
我们报告了三名患有符合明确慢性炎症性脱髓鞘性多发性神经根神经病（CIDP）临床和实验室标准综合征的患者，他们免疫抑制治疗失败，最终发展为进行性肌萎缩侧索硬化症（ALS）。死亡前平均病程为23个月（13 - 38个月）。两名患者有ALS家族史，但SOD1基因无突变。一名患者的尸检显示腰神经根以及远端和近端周围神经存在单核细胞的神经内膜浸润，主要围绕有髓纤维，伴有脱髓鞘和轴突丢失，符合CIDP表现。脊髓显示前角严重神经元丢失、皮质脊髓束轴突丢失以及前束和侧束大量吞噬细胞，提示ALS。在这些患者中，脱髓鞘性多发性神经病是与ALS同时发生，还是运动神经元变性的原因或结果，仍有待阐明。这种不寻常的组合可能为阐明某些患者ALS的发病机制提供重要线索。
